Publications by authors named "J G Van As"
5-Fluorouracil (5-Fu) is the third-most often used chemotherapeutic medication and has been scientifically demonstrated to be effective in treating solid tumors, including colorectal, stomach, cutaneous, and breast cancers. When used in excess, it accumulates toxic metabolites, which can have deadly and very harmful effects on people, including neurotoxicity and the induction of morbidity. Therefore, sensitive and rapid analytical techniques for detecting 5-Fu in human blood serum are needed to enhance chemotherapy and forecast the possible adverse effects of 5-Fu residues in the human body.
View Article and Find Full Text PDFArticle Synopsis
- Several small genetic studies on atypical femur fractures (AFF) have been conducted, but results lacked replication; this study uses whole exome sequencing to analyze genetic factors in a larger sample of 139 European AFF cases and 196 controls.
- The analysis identified suggestive associations with genes like PLOD2, XRN2, and SORD, although not statistically significant; replication studies showed varying consistency across populations.
- Findings suggest that genetic factors influencing AFFs differ among individuals and highlight the need for larger studies to further understand the genetic basis of AFF.*
Gene panel sequencing has become a common diagnostic tool for detecting somatically acquired mutations in myeloid neoplasms. However, many panels have restricted content, provide insufficient sensitivity levels, or lack clinically validated workflows. We here describe the development and validation of the Genomic Medicine Sweden myeloid gene panel (GMS-MGP), a capture-based 191 gene panel including mandatory genes in contemporary guidelines as well as emerging candidates.
View Article and Find Full Text PDFArticle Synopsis
- Researchers conducted whole genome sequencing on 66 cases of CNS toxicity induced by antimicrobial drugs and 833 controls to explore genetic predispositions.
- The study primarily examined the role of seventeen efflux transporters at the blood-brain barrier and found no significant association, but identified uncommon genetic variants linked to CNS toxicity.
- Three specific genes—LCP1, RETSAT, and SFMBT2—were associated with the toxicity, particularly variants in LCP1 that showed strong statistical significance.
In this work, the crystal plane of strontium oxide (SrO) nanorods was integrated into hexagonal-boron nitride (h-BN) nanosheets to form 1D-2D (SrO/h-BN) composite were utilized for the electrochemical detection of the chemotherapeutic drug 5-fluorouracil (5-Fu). 5-Fu is a clinically proven and the third most frequently applied chemotherapeutic drug for treating solid tumours, such as colorectal, stomach, cutaneous and breast malignancies. Its overdoses lead to toxic metabolite accumulation that has serious adverse consequences on humans, including neurotoxicity, death and the induction of morbidity.
View Article and Find Full Text PDF